Canonical Allele Identifier: CA445802320
Gene: SLC25A46 HGNC NCBI

Linked Data

gnomAD v4: 5-110746271-T-C
MyVariant Identifiers: chr5:g.110081972T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.110746271T>C , CM000667.2:g.110746271T>C GRCh38
NC_000005.9:g.110081972T>C , CM000667.1:g.110081972T>C GRCh37
NC_000005.8:g.110109871T>C NCBI36
NG_051334.1:g.13136T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000355943.8:c.387T>C MANE Select ENSP00000348211.3:p.Val129=
ENST00000355943.7:c.387T>C ENSP00000348211.3:p.Val129=
ENST00000447245.6:c.387T>C ENSP00000399717.2:p.Val129=
ENST00000502462.6:n.703T>C
ENST00000504098.1:c.-52T>C ENSP00000425708.1:n.-52T>C
ENST00000508781.5:n.216T>C
ENST00000513807.5:c.-100T>C ENSP00000421134.1:n.-100T>C
NM_001303249.1:c.387T>C NP_001290178.1:p.Val129=
NM_001303250.1:c.114T>C NP_001290179.1:p.Val38=
NM_138773.2:c.387T>C NP_620128.1:p.Val129=
XM_011543708.1:c.387T>C XP_011542010.1:p.Val129=
NM_001303249.2:c.387T>C NP_001290178.1:p.Val129=
NM_001303250.2:c.114T>C NP_001290179.1:p.Val38=
NM_138773.3:c.387T>C NP_620128.1:p.Val129=
NR_138151.1:n.535T>C
NM_138773.4:c.387T>C MANE Select NP_620128.1:p.Val129=
NM_001303249.3:c.387T>C NP_001290178.1:p.Val129=
NM_001303250.3:c.114T>C NP_001290179.1:p.Val38=
NR_138151.2:n.500T>C
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